Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0700208 (scoliosis)
 8,574 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A female patient with mild mental retardation with spatial perceptual difficulties, microcephaly, depressed nasal root, receding chin, webbed neck, low hairline, shield chest, cubitus valgus, scoliosis and dermatoglyphic findings not characteristic of Down's syndrome is reported. In addition to X/XXX, she had a partial trisomy 21 of the short arm-centromere-proximal long arm segment due to maternal t(12;21) translocation. Two phenotypically normal siblings carried the balanced translocation.
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PMID:Double aneuploidy: partial trisomy 21 and XO/XXX in a family with 12/21 translocation. 31 94

The aim of this paper was to determine the morphotype of Marfan's syndrome based on the examination of three patients affected with this disease. After having described the clinical picture of our patients, we carried out anthropometric measurements with calculation of indexes. This study revealed that patients No. 1 and 2 showed nearly identical morphotypes, while the third case presented an abortive form of Marfan's syndrome with slight signs of hypoandria. The morphotype of Marfan's syndrome can be briefly outlined as follows: excessive height; macroskelia, hypermacroskelia; brachycormia; long upper limbs; arm span exceeding the height; narrow shoulders; narrow and often deformed chest; arachnodactyly of hands and feet; kyphoscoliosis or scoliosis; mesocephaly or brachycephaly; large forehead; leptoprosopic or hyperleptoprosopic face; high arched palate.
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PMID:[The morphotype of Marfan's syndrome]. 33 25

Of 41 patients with Duchenne muscular dystrophy, no ambulatory patient had scoliosis greater than 19 degrees. Non-ambulatory patients were prophylactically placed in body jackets, which kept the spine flexible and provided adequate support for sitting in the majority of patients. Ten patients had posterior spine fusion for progressive spinal collapse. The procedure was extensive with significant blood loss but boney fusion was achieved in every case. Pulmonary complications were minimized by performing preoperative tracheostomy on all patients who had vital capacities less than 40% and or non-functional coughs. Spinal fusion permitted long-term sitting stability despite the progression of the disease.
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PMID:Stabilization of the collapsing spine in duchenne muscular dystrophy. 34 97

A pilot study of ten individuals with adolescent-onset idiopathic scoliosis demonstrated that a week of Cotrel traction and exercises did not improve curve correction obtained by the application of an elongation, derotation, flexion (EDF) cast. There was, however, a significant improvement on lateral bending correction during this period. A prospective, randomized, controlled clinical trial showed that the exercise programme and not the traction was responsible for rendering the spine less rigid.
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PMID:Cotrel traction, exercises, casting in the treatment of idiopathic scoliosis. A pilot study and prospective randomized controlled clinical trial. 35 2

The first part of this paper consists of a discussion of the prognosis of the main forms of scoliosis and the operative treatment of this condition. The various modes of pre-operative curvature correction are detailed, as well as the main operative techniques from the dorsal (mainly the Harrington procedure) and ventral spinal approach (dwyer procedure, wedge resection). The second part describes the operative treatment of kyphosis. The most important complications are described.
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PMID:[The operative treatment of scoliosis and kyphosis (author's transl)]. 35 69

Fifty-two abortuses with CNS defects, delivered during the first half of gestation, were examined for the presence of fused suprarenal glands. Three cases were found, the first in an 8 week embryo aborted spontaneously; the second and third in 18 and 20-week foetuses terminated for suspected CNS abnormality. All three had severe vertebral pathology in addition to the fused suprarenals and the CNS defects. It is suggested that the anomaly may be part of a widespread embryonal distortion secondary to disturbance in the vertebral axis. Since going to press, a further case of fused suprarenals has been found in a 22 week female foetus which had anencephaly and complete spina bifida, severe scoliosis and kyphosis, a small omphalocele, absence of the right kidney, a polycystic left kidney and a unicornuate uterus. This case was found among 12 further abortuses with CNS defects.
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PMID:Fused suprarenal glands in association with central nervous system defects in the first half of foetal life. 38 12

Open malformations of the central nervous system may involve the brain or spinal cord, or both. Preliminary experiments in which a window was cut in the shell overlying early chick embryos (with removal of 2 ml of albumen) produced a range of neural and non-neural malformations. Exposure of Stage 5--10 embryos at 26 hours of incubation produced open brain and cord defects. Embryos were recovered at 11--12 days for gross examination. Open cord defects in 12 day experimental embryos could be divided morphologically into 2 types. One group showed an everted symmetrical plaque of neural tissue. In the other group the cord defect was more irregular, partly covered by skin, and often combined with rump and trunk defects. Skeletal staining showed that vertebral lesions increased in severity in a cranio-caudal sequence. Spina bifida occulta was found in the cervical and upper thoracic regions; spina bifida manifesta, associated with open cord defects, occurred from the lower thoracic to the sacral regions; vertebral deletions were almost confined to the caudal region. Spina bifida manifesta at the site of open cord defects also showed 2 distinct patterns. Regular cord defects were associated with regular spinal defects, showing loss of spinous processes, reduction of laminae and eversion of the pedicles. Irregular cord defects were associated with more irregular spinal defects showing vertebral deletions or fusions, rumplessness, and pelvic reduction. Neither group, however, showed local kyphosis or scoliosis. Early neurogenesis in the avian and human embryos is very similar with development of the spinal cord from neural plate and tail bud materials which fuse in an overlap zone. These experimental defects in the chick embryo, separable into regular and irregular types thus provide a useful model for investigation of the embryogenesis of spina bifida.
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PMID:Morphology of experimental spina bifida in the chick embryo. 38 9

A modified innominate osteotomy was employed to treat postural imbalance by a hemipelvic lengthening in twenty patients, five to twenty years old. Diagnoses associated with the postural imbalance included acetabular dysplasia with ipsilateral femoral shortening, pure limb-length inequality, primary intrapelvic asymmetry, and decompensated scoliosis. The functionally low hemipelvis was lengthened as much as three centimeters by distraction at the osteotomy and insertion of a quadrangular bone graft. The option of a variable amount of acetabular redirection was especially useful in patients with ipsilateral acetabular dysplasia. Review of the patients after two to six years revealed that an average lengthening of 2.3 centimeters had been achieved. Fourteen patients had a balanced stance without a lift postoperatively, and the size of the lift required in the other six patients was greatly reduced.
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PMID:Transiliac lengthening of the lower extremity. A modified innominate osteotomy for the treatment of postural imbalance. 38 29

The article is devoted to the treatment of diseases and damages of the locomotor system: intervertebral osteochondrosis (63 patients), scoliosis (34 patients subjected to 55 operations), fractures and false joints (270 patients), benign tumor of the bones (287 patients). The nearest and remote results were analyzed. The author recommends a wider use of allogenic bone tissues, sterilized in antiseptic solutions with the subsequent freezing.
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PMID:[Bone alloplasty in the surgery of the locomotor apparatus]. 39 Aug 43

Between July 1963 and December 1974, we surgically treated 207 patients who had severe scoliosis (curves greater than 90 degrees), 196 of whom were eligible for inclusion in this study. No patient was treated preoperatively with a cast or traction. Upon statistical analysis, age and preoperative curve magnitude proved to be significant variables relative to the amount of surgical correction obtained and the maintenance of that correction; sex and etiology of the scoliosis were not shown to affect either surgical outcome or maintenance of correction. A comparative analysis showed our results to be as good as those reported by others using various preoperative regimens of casting or traction or both. Therefore, we find that the preoperative application of traction to patients with severe scoliosis yields no better correction than the use of Harrington instrumentation and fusion alone.
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PMID:Results of Harrington instrumentation in the treatment for severe scoliosis. 39 95


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